Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057062T>C , CM000679.2:g.43057062T>C	GRCh38
NC_000017.10:g.41209079T>C , CM000679.1:g.41209079T>C	GRCh37
NC_000017.9:g.38462605T>C	NCBI36
NG_005905.2:g.160922A>G , LRG_292:g.160922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5264A>G	ENSP00000417241.2:p.Gln1755Arg
ENST00000470026.6:c.5267A>G	ENSP00000419274.2:p.Gln1756Arg
ENST00000473961.6:c.5141A>G	ENSP00000420201.2:p.Gln1714Arg
ENST00000476777.6:c.5261A>G	ENSP00000417554.2:p.Gln1754Arg
ENST00000477152.6:c.5189A>G	ENSP00000419988.2:p.Gln1730Arg
ENST00000478531.6:c.1955A>G	ENSP00000420412.2:p.Gln652Arg
ENST00000489037.2:c.5189A>G	ENSP00000420781.2:p.Gln1730Arg
ENST00000493919.6:c.1817A>G	ENSP00000418819.2:p.Gln606Arg
ENST00000494123.6:c.5267A>G	ENSP00000419103.2:p.Gln1756Arg
ENST00000497488.2:c.4379A>G	ENSP00000418986.2:p.Gln1460Arg
ENST00000618469.2:c.5267A>G	ENSP00000478114.2:p.Gln1756Arg
ENST00000634433.2:c.5144A>G	ENSP00000489431.2:p.Gln1715Arg
ENST00000644379.2:c.5333A>G	ENSP00000496570.2:p.Gln1778Arg
ENST00000644555.2:c.1817A>G	ENSP00000494614.2:p.Gln606Arg
ENST00000652672.2:c.5126A>G	ENSP00000498906.2:p.Gln1709Arg
ENST00000484087.6:c.1829A>G	ENSP00000419481.2:p.Gln610Arg
ENST00000357654.9:c.5267A>G MANE Select	ENSP00000350283.3:p.Gln1756Arg
ENST00000471181.7:c.5330A>G	ENSP00000418960.2:p.Gln1777Arg
ENST00000644379.1:c.1654A>G
ENST00000352993.7:c.1841A>G	ENSP00000312236.5:p.Gln614Arg
ENST00000357654.7:c.5267A>G	ENSP00000350283.3:p.Gln1756Arg
ENST00000461221.5:c.*5050A>G	ENSP00000418548.1:n.*5050A>G
ENST00000468300.5:c.1955A>G	ENSP00000417148.1:p.Gln652Arg
ENST00000471181.6:c.5330A>G	ENSP00000418960.2:p.Gln1777Arg
ENST00000491747.6:c.1955A>G	ENSP00000420705.2:p.Gln652Arg
ENST00000493795.5:c.5126A>G	ENSP00000418775.1:p.Gln1709Arg
ENST00000586385.5:c.197A>G	ENSP00000465818.1:p.Gln66Arg
ENST00000591534.5:c.740A>G	ENSP00000467329.1:p.Gln247Arg
ENST00000591849.5:c.-98-6872A>G	ENSP00000465347.1:n.-98-6872A>G
NM_007294.3:c.5267A>G , LRG_292t1:c.5267A>G	NP_009225.1:p.Gln1756Arg
NM_007297.3:c.5126A>G	NP_009228.2:p.Gln1709Arg
NM_007298.3:c.1955A>G	NP_009229.2:p.Gln652Arg
NM_007299.3:c.1955A>G	NP_009230.2:p.Gln652Arg
NM_007300.3:c.5330A>G	NP_009231.2:p.Gln1777Arg
NR_027676.1:n.5403A>G
NM_007294.4:c.5267A>G MANE Select	NP_009225.1:p.Gln1756Arg
NM_007297.4:c.5126A>G	NP_009228.2:p.Gln1709Arg
NM_007299.4:c.1955A>G	NP_009230.2:p.Gln652Arg
NM_007300.4:c.5330A>G	NP_009231.2:p.Gln1777Arg
NR_027676.2:n.5444A>G